Associated Papers
A Pediatric Case of KRT2 Nonsyndromic Epidermal Differentiation Disorder With a Concurrent GJB4 Variant.
Saito N et al.
The Journal of Dermatology, 2026
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
Xiang R et al.
Acta Dermato-venereologica, 2025
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Yang Z et al.
Pediatric Investigation, 2023
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.
Suzuki Y et al.
International Journal of Molecular Sciences, 2022
Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.
Mohamad J et al.
Pediatric Dermatology, 2021
The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2020
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
Diociaiuti A et al.
International Journal of Molecular Sciences, 2020
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis.
Gameiro A et al.
Pediatric Dermatology, 2016
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Hotz A et al.
Acta Dermato-venereologica, 2016
Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation.
Akasaka E et al.
Journal of Dermatological Science, 2015
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.
Kubo A et al.
The Journal of Dermatology, 2013
Keratin gene mutations in disorders of human skin and its appendages.
Chamcheu JC et al.
Archives of Biochemistry and Biophysics, 2011
Superficial epidermolytic ichthyosis: a report of two families.
Cervantes T et al.
Pediatric Dermatology, 0